Varaico: Literature-Extracted Genetic Variants

SCN5A

2,996 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible f...

Pfam Domains

Ion_transaa 130–423UCSCIon transport protein

Na_trans_cytoplaa 507–667UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 716–949UCSCIon transport protein

Na_trans_assocaa 953–1200UCSCSodium ion transport-associated

Ion_transaa 1204–1481UCSCIon transport protein

Ion_transaa 1527–1783UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 5

HGNC Previous Symbol

CMD1E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000335.5

p.F733L

c.2199C>G

Surrounding Variants

1 paper

NM_000335.5

p.F733L

c.2199C>A

2 papers

NM_000335.5

p.M734V

c.2200A>G

1 paper

NM_000335.5

p.F733V

c.2197T>G

1 paper

NM_000335.5

p.F733L

c.2197T>C

1 paper

NM_000335.5

p.F733I

c.2197T>A

2 papers

NM_000335.5

p.M734insFs

c.2201dupT

5 papers

NM_000335.5

p.A735T

c.2203G>A

1 paper

NM_000335.5

p.F733_M734del0

c.2197_2202del6

1 paper

NM_000335.5

p.A735fs

c.2203_2204fs

42 papers

NM_000335.5

p.A735V

c.2204C>T

3 papers

NM_000335.5

p.L732V

c.2194C>G

17 papers

NM_000335.5

p.A735E

c.2204C>A